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- Santer, René
- Lukacs, Zoltan 9
- Hempel, Maja 6
- Tsiakas, Konstantinos 6
- Schneppenheim, Reinhard 5
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95 Einträge gefunden
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Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
- Oud, Machteld M
- Tuijnenburg, Paul
- Hempel, Maja
- van Vlies, Naomi
- Ren, Zemin
- Ferdinandusse, Sacha
- Jansen, Machiel H
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A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis
- Santer, René
- du Moulin, Marcel
- Shahinyan, Tatevik
- Vater, Inga
- Maier, Esther
- Muntau, Ania C
- Steinmann, Beat
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Phenylketonuria: Direct and indirect effects of phenylalanine
2016 - Forschungsinformationssystem des UKE -
Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients
- Groeschel, Samuel
- Kühl, Jörn-Sven
- Bley, Annette E
- Kehrer, Christiane
- Weschke, Bernhard
- Döring, Michaela
- Böhringer, Judith
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Site-1 protease-activated formation of lysosomal targeting motifs is independent of the lipogenic transcription control
2015 - Forschungsinformationssystem des UKE -
A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe
2015 - Forschungsinformationssystem des UKE - frei zugänglich -
Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany
- Hahn, Andreas
- Praetorius, Susanne
- Karabul, Nesrin
- Dießel, Johanna
- Schmidt, Dorle
- Motz, Reinald
- Haase, Claudia
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Nectin-4 Mutations Causing Ectodermal Dysplasia with Syndactyly Perturb the Rac1 Pathway and the Kinetics of Adherens Junction Formation
- Fortugno, Paola
- Josselin, Emmanuelle
- Tsiakas, Konstantinos
- Agolini, Emanuele
- Cestra, Gianluca
- Teson, Massimo
- Santer, René
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Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature
- Grabhorn, Enke
- Tsiakas, Konstantinos
- Herden, Uta
- Fischer, Lutz
- Freisinger, Peter
- Marquardt, Thorsten
- Ganschow, Rainer
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Homozygosity for a partial deletion of apoprotein A-V signal peptide results in intracellular missorting of the protein and chylomicronemia in a breast-fed infant
- Albers, Kirstin
- Schlein, Christian
- Wenner, Kirsten
- Lohse, Peter
- Bartelt, Alexander
- Heeren, Joerg
- Santer, René
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Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis
2014 - Forschungsinformationssystem des UKE - frei zugänglich -
Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency
2013 - Forschungsinformationssystem des UKE -
Glyceroluria and neonatal hemochromatosis.
- Barić, Ivo
- Zibar, Karin
- Ćorić, Marijana
- Santer, René
- Bonilla, Silvana
- Bilić, Karmen
- Buljević, Andrea Dasović
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Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype.
2012 - Forschungsinformationssystem des UKE -
Propionic acidemia: neonatal versus selective metabolic screening.
2012 - Forschungsinformationssystem des UKE -
A child with night blindness: preventing serious symptoms of Refsum disease.
- Kohlschütter, Alfried
- Santer, René
- Lukacs, Zoltan
- Altenburg, Christiane
- Kemper, Markus J.
- Rüther, Klaus